Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
decreased prepulse inhibition | Smchd1em1(IMPC)Tcp | HET | Early adult | 6.28×10-05 | ||
impaired pupillary reflex | Smchd1em1(IMPC)Tcp | HOM | Early adult | 8.75×10-05 | ||
abnormal stomach morphology | Smchd1em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
abnormal sternum morphology | Smchd1em1(IMPC)Tcp | HET | Early adult | 0.00 | ||
preweaning lethality, complete penetrance | Smchd1em1(IMPC)Tcp | HOM | Early adult | 0.00 | ||
preweaning lethality, incomplete penetrance | Smchd1em1(IMPC)Tcp | HOM | Early adult | 0.00 |
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Smchd1 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Bosma Arhinia Microphthalmia Syndrome | Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Micropenis | OMIM:603457 | |
Facioscapulohumeral Dystrophy | Abnormal retinal vascular morphology | ORPHA:269 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia | ORPHA:2250 | |
Facioscapulohumeral Muscular Dystrophy 2, Digenic | OMIM:158901 |
The table below shows human diseases predicted to be associated to Smchd1 by phenotypic similarity.
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